5|25: Celebrating Five Years of Autism Science Day 3: Potential Reversal of Neurodevelopmental Disorders

In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our third item, Potential Reversal of Neurodevelopmental Disorders, is from Autism Speaks’ Top 10 Autism Research Events of 2007.

2007 saw the publication of several studies that documented successful treatment of disease symptoms in mouse models of three different neurodevelopmental disorders related to autism. Most significantly, two of three (Fragile X and Rett) involved reversal of the phenotype AFTER the mice had already become sick, suggesting that developmental disorders such as autism may be treatable in adolescence or adulthood.

In February 2007, researchers in Scotland found that they could reverse the debilitating defects and certain death in mice carrying the Rett Syndrome gene, wellafter the mice had regressed into the most severe stages of disease. In July, researchers at Massachusetts Institute of Technology used a mouse model of Fragile X syndrome to show that it was possible to reverse Fragile X and autistic symptoms after birth. Although the specific treatment approaches may not be directly applicable to an eventual autism treatment, the successful and entirely unexpected “rescue” of adult animals taught the world that so-called “developmental” disorders, those that begin in infancy, apparently still have a potential to be reversed later in life.

Given the behavioral overlap of these disorders with autism, even if the underlying disease-causing biological mechanisms are different, these results provided hope to scientists and families alike that we can (and will!) do the same for autism.

Update since this story was first run: These experiments changed the mindset of scientists worldwide, serving as a proof-of-principle for the many researchers now searching for pharmacological methods to treat these and other animal models of neurodevelopmental disorders. In a 2009 publication from the Proceedings of the National Academy of Science, researchers from MIT reported that a pharmacological treatment of the Rett syndrome mouse extended the lifespan of the animals and partially rescued a variety of symptoms, including irregular heart and breathing patterns. Studies such as these are paving the way for future human clinical trials.